Rasool R, Shera I A, Nissar S, Yousuf Q, Shah Z A
Department of Immunology & Molecular Medicine, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar 190011, Kashmir, India.
Department of Immunology & Molecular Medicine, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar 190011, Kashmir, India.
Allergol Immunopathol (Madr). 2015 May-Jun;43(3):243-8. doi: 10.1016/j.aller.2014.04.001. Epub 2014 Jun 20.
The pathogenesis of chronic spontaneous urticaria involves interplay between the genetic and environmental factors, most of which is still poorly understood. It is well-recognized that 30-40% of chronic spontaneous urticaria is autoimmune in nature. Chronic autoimmune urticaria is caused by anti-FcɛR1β and less frequently, by anti-IgE auto antibodies that lead to mast cell and basophil activation, thereby giving rise to the release of histamine and other proinflammatory mediators. We investigated the association between SNP loci in FcɛR1β and chronic spontaneous urticaria and to see its relation with serum IgE levels in Kashmiri population.
The autologous serum skin test was used as a screening test for chronic autoimmune urticaria. PCR-RFLP was used to detect the genotype of the SNP loci. Serum IgE levels were assessed by ELISA kit.
No significant difference was found between the study population and control group in genotype distribution (wild and variant) among FcɛR1β loci (P value=0.06, odds ratio=0.29). The frequency of FcɛR1β (C109T) in autologous serum skin test positive chronic autoimmune urticaria patients with the CT genotype was found to be statistically non-significant when compared with the wild genotype (P=0.35). Carriers of FcɛR1β (T allele) had a more significant risk of developing CAU than those with C allele (P=0.01). In our population serum total IgE levels did not find any statistical significance with regard to ASST positive & ASST negative patients (P=0.26).
There is statistically no significant association between FcɛR1β gene polymorphism and CSU in Kashmiri population; however, there is a probability of developing CSU in patients carrying FcɛR1β T allele. Furthermore, serum total IgE levels had no significant association with the development of CAU.
慢性自发性荨麻疹的发病机制涉及遗传和环境因素之间的相互作用，其中大部分仍知之甚少。众所周知，30%-40%的慢性自发性荨麻疹本质上是自身免疫性的。慢性自身免疫性荨麻疹由抗FcɛR1β引起，较少由抗IgE自身抗体引起，这些抗体会导致肥大细胞和嗜碱性粒细胞活化，从而引起组胺和其他促炎介质的释放。我们研究了FcɛR1β基因单核苷酸多态性（SNP）位点与慢性自发性荨麻疹之间的关联，并观察其与克什米尔人群血清IgE水平的关系。
自体血清皮肤试验用作慢性自身免疫性荨麻疹的筛查试验。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测SNP位点的基因型。用酶联免疫吸附测定（ELISA）试剂盒评估血清IgE水平。
在FcɛR1β位点的基因型分布（野生型和变异型）方面，研究人群与对照组之间未发现显著差异（P值=0.06，优势比=0.29）。与野生基因型相比，自体血清皮肤试验阳性的慢性自身免疫性荨麻疹患者中，CT基因型的FcɛR1β（C109T）频率在统计学上无显著差异（P=0.35）。FcɛR1β（T等位基因）携带者患慢性自身免疫性荨麻疹的风险比C等位基因携带者更高（P=0.01）。在我们的人群中，血清总IgE水平在自体血清皮肤试验阳性和阴性患者之间未发现任何统计学意义（P=0.26）。
在克什米尔人群中，FcɛR1β基因多态性与慢性自发性荨麻疹之间在统计学上无显著关联；然而，携带FcɛR1β T等位基因的患者有患慢性自发性荨麻疹的可能性。此外，血清总IgE水平与慢性自身免疫性荨麻疹的发生无显著关联。
